Varaico: Literature-Extracted Genetic Variants

SQSTM1

1,685 papers

RefSeq Summary

This gene encodes a multifunctional protein that binds ubiquitin and regulates activation of the nuclear factor kappa-B (NF-kB) signaling pathway. The protein functions as a scaffolding/adaptor protei...

Pfam Domains

PB1aa 21–102UCSCPB1 domain

ZZaa 122–165UCSCZinc finger, ZZ type

UBA_5aa 379–440UCSCUBA domain

Gene Aliases

HGNC Name

sequestosome 1

HGNC Previous Symbols

PDB3; OSIL

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_003900.5

p.C105C

c.315C>T

Surrounding Variants

1 paper

NM_003900.5

p.C105S

c.314G>C

1 paper

NM_003900.5

p.C105insFs

c.315dupC

1 paper

NM_003900.5

p.R106Q

c.317G>A

1 paper

NM_003900.5

p.C105S

c.313T>A

5 papers

NM_003900.5

p.R107W

c.319C>T

1 paper

NM_003900.5

p.D108delFs

c.322delG

1 paper

NM_003900.5

p.R107Q

c.320G>A

3 papers

NM_003900.5

p.E104fs

c.310_311fs

2 papers

NM_003900.5

p.K103R

c.308A>G

7 papers

NM_003900.5

p.E104delFs

c.311_312delAG

2 papers

NM_003900.5

p.D108Y

c.322G>T

3 papers

NM_003900.5

p.K102N

c.306A>T